Detalhe da pesquisa
1.
The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival.
Hum Mol Genet
; 32(6): 984-997, 2023 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36255738
2.
The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4.
Am J Hum Genet
; 109(3): 533-541, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148830
3.
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.
Genet Med
; 26(7): 101125, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38522068
4.
COVID-19 in patients with myasthenia gravis: a single-center retrospective study in China.
Neurol Sci
; 2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38652194
5.
Pathological findings with vacuoles in anti-mitochondrial antibody-positive inflammatory myopathy.
BMC Musculoskelet Disord
; 25(1): 257, 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38566087
6.
Synthesis and Antifungal Activity of Norbornene Carboxamide/sulfonamide Derivatives as Potential Fungicides Targeting Laccase.
Chem Biodivers
; : e202302033, 2024 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38616167
7.
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
Am J Hum Genet
; 106(6): 793-804, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32413282
8.
Risk-prediction models for intravenous immunoglobulin resistance in Kawasaki disease: Risk-of-Bias Assessment using PROBAST.
Pediatr Res
; 94(3): 1125-1135, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36964445
9.
Synthesis and Antifungal Activity of Novel L-Menthol Hydrazide Derivatives as Potential Laccase Inhibitors.
Chem Biodivers
; 20(7): e202300539, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37317940
10.
Comparison of antegrade robotic assisted VS laparoscopic inguinal lymphadenectomy for penile cancer.
BMC Surg
; 23(1): 55, 2023 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36915083
11.
Thigh MRI in antisynthetase syndrome, and comparisons with dermatomyositis and immune-mediated necrotizing myopathy.
Rheumatology (Oxford)
; 62(1): 310-320, 2022 12 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35512205
12.
The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3.
Brain
; 144(6): 1819-1832, 2021 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33693509
13.
Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era.
J Med Genet
; 58(11): 743-751, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32978268
14.
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective.
J Med Genet
; 58(11): 729-736, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32994280
15.
Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective.
Hum Mutat
; 42(12): 1615-1623, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34559919
16.
Myasthenia gravis associated with renal cell carcinoma: a paraneoplastic syndrome or just a coincidence.
BMC Neurol
; 21(1): 277, 2021 Jul 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34253185
17.
A deep learning model for diagnosing dystrophinopathies on thigh muscle MRI images.
BMC Neurol
; 21(1): 13, 2021 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33430797
18.
Chronic inflammatory demyelinating polyneuropathy with hypoglossal nerve involvement and inverted Beevor's sign: case report.
BMC Neurol
; 21(1): 244, 2021 Jun 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34172017
19.
Response to Eura et al.
Am J Hum Genet
; 109(11): 2090-2091, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36332613
20.
Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report.
BMC Neurol
; 20(1): 436, 2020 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33267805